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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

DiGeorge syndrome critical region gene 2

IDD, COL9A3
Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] (from NCBI)
Papers on IDD
Novel pancreatic beta cell-specific proteins: antibody-based proteomics for identification of new biomarker candidates.
GeneRIF
Danielsson et al., Uppsala, Sweden. In J Proteomics, 2012
DGCR2, GPR44 and SerpinB10, found in beta cells, were negative in all other cell types within pancreas and exposed epitopes at the cell surface
Type IX collagen neo-deposition in degenerative discs of surgical patients whether genotyped plus or minus for COL9 risk alleles.
GeneRIF
Eyre et al., Seattle, United States. In Spine (phila Pa 1976), 2011
Studies indicate that two SNPs that introduce tryptophan polymorphisms in COL9A2 and COL9A3 are independently linked to an increased risk of lumbar disc disease.
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.
GeneRIF
Song et al., Seoul, South Korea. In Int J Mol Med, 2010
We report an 81% mutation detection rate for pseudoachondroplasia, of which COMP+Col9A3 mutations were more prevalent (61%) than COMP mutations alone (30%).
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
GeneRIF
Briggs et al., Manchester, United Kingdom. In Am J Med Genet A, 2010
This study extends the range of gene-mutations that can cause multiple epiphyseal dysplasia-related myopathy.
Inhibition of platelet GPIb alpha and promotion of melanoma metastasis.
GeneRIF
Schön et al., Würzburg, Germany. In J Invest Dermatol, 2010
GPIb alpha contributes to the control of tumor metastasis, in addition to its role in hemostasis
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